Varaico: Literature-Extracted Genetic Variants

Gene:NAT8

NAT8

285 papers

RefSeq Summary

This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-...

Pfam Domains

Acetyltransf_1aa 71–193UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

N-acetyltransferase 8 (putative)

HGNC Alias Symbols

Hcml1; TSC501; ATase2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 76 variants
65 papers
NM_003960.4
p.G197D
c.590G>A
14 papers
NM_003960.4
p.F143S
c.428T>C
7 papers
NM_003960.4
p.D145A
c.434A>C
6 papers
NM_003960.4
p.L64F
c.190C>T
6 papers
NM_003960.4
p.L137F
c.411G>T
6 papers
NM_003960.4
p.L137F
c.411G>C
4 papers
NM_003960.4
p.L187F
c.559C>T
4 papers
NM_003960.4
p.V203V
c.609G>T
2 papers
NM_003960.4
p.G24V
c.71G>T
2 papers
NM_003960.4
p.E104K
c.310G>A
2 papers
NM_003960.4
p.S114F
c.341C>T
2 papers
NM_003960.4
p.P126L
c.377C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."